Variant report
Variant | esv3454544 |
---|---|
Chromosome Location | chr20:16221648-16222411 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr20:16216245..16219202-chr20:16220225..16222691,2 | K562 | blood: |
No data |
No data |
No data |
No data |
Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page:
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs189640559 | chr20:16221692-16221693 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
2 | rs9973984 | chr20:16221710-16221711 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
3 | rs373826200 | chr20:16221718-16221719 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
4 | rs112114483 | chr20:16221725-16221726 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
5 | rs112936568 | chr20:16221741-16221742 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
6 | rs529611317 | chr20:16221787-16221788 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
7 | rs144038169 | chr20:16221790-16221791 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
8 | rs111581649 | chr20:16221805-16221806 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
9 | rs113764929 | chr20:16221818-16221819 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
10 | rs538436766 | chr20:16221832-16221833 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
11 | rs532840848 | chr20:16221841-16221842 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
12 | rs146259684 | chr20:16221849-16221850 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
13 | rs180850993 | chr20:16221857-16221858 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
14 | rs372371546 | chr20:16221861-16221862 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
15 | rs531031403 | chr20:16221865-16221866 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
16 | rs549365969 | chr20:16221877-16221878 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
17 | rs567960438 | chr20:16221880-16221881 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
18 | rs535050482 | chr20:16221909-16221910 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
19 | rs368205124 | chr20:16221933-16221934 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
20 | rs546973089 | chr20:16221966-16221967 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
21 | rs6135714 | chr20:16221988-16221989 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
22 | rs73106376 | chr20:16222009-16222010 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
23 | rs116268776 | chr20:16222013-16222014 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs143969962 | chr20:16222048-16222049 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs6131805 | chr20:16222093-16222094 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
26 | rs537257866 | chr20:16222174-16222175 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs555312683 | chr20:16222203-16222204 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs573875024 | chr20:16222205-16222206 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs540995023 | chr20:16222206-16222207 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs375170762 | chr20:16222209-16222210 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs571711032 | chr20:16222235-16222236 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs146464804 | chr20:16222236-16222237 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs537667474 | chr20:16222255-16222256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs544676053 | chr20:16222283-16222284 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs551267521 | chr20:16222285-16222286 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs139513666 | chr20:16222286-16222287 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs530970344 | chr20:16222287-16222288 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs543198966 | chr20:16222293-16222294 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs183925416 | chr20:16222366-16222367 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
40 | rs34407892 | chr20:16222375-16222376 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
41 | rs2788910 | chr20:16222404-16222405 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Breast cancer | 16397240 | CNVD |
abortions and stillbirths | 19751515 | CNVD |
Wilms tumour | 21544195 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Breast cancer | 16272173 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Ewing''s sarcoma | 21437220 | CNVD |
Oral cancer | 19627613 | CNVD |
colon cancer | 17210682 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Thyroid cancer | 19087340 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Cancer | 16751803 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Human rectal carcinomas | 16397240 | CNVD |
Olfactory neuroblastoma | 18408657 | CNVD |
Central neurocytomas | 17123091 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Gastric cancer | 17908304 | CNVD |
Urothelial carcinoma | 21177765 | CNVD |
Acute myeloid leukemia | 20729466 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Colorectal cancer | 21645411 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Lung cancer | 18438408 | CNVD |
Autism | 22495311 | CNVD |
Glaucoma | 21310917 | CNVD |
Alagille syndrome | 22470819 | CNVD |
Lung cancer | 16773561 | CNVD |
Renal cell carcinoma | 18765545 | CNVD |
Alagille syndrome | 17576883 | CNVD |
Anaplastic large cell lymphoma | 18179710 | CNVD |
Prostate cancer | 18632612 | CNVD |
Ewing''s sarcoma | 18628472 | CNVD |
Glioblastoma multiforme | 18628472 | CNVD |
Leukemia | 18628472 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Kabuki syndrome | 21720541 | CNVD |
Glioblastoma multiforme | 22286061 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Neurocytoma | 17123091 | CNVD |
T-cell prolymphocytic leukemia | 17713554 | CNVD |
Breast cancer | 21364760 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Breast cancer | 22522925 | CNVD |
early-passage human iPS cells | 21368824 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr20:16217400-16226800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr20:16218200-16224000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
3 | chr20:16220000-16224400 | Weak transcription | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr20:16222000-16222400 | Enhancers | Fetal Brain Male | brain |
5 | chr20:16222000-16222800 | Enhancers | Brain Cingulate Gyrus | brain |
6 | chr20:16222000-16223000 | Enhancers | Primary B cells from peripheral blood | blood |
7 | chr20:16222400-16222600 | Enhancers | Brain Inferior Temporal Lobe | brain |
8 | chr20:16222400-16223000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |